Spichtin H, Mihatsch M J
Pathol Res Pract. 1979 Apr;164(1):80-6.
Progress in the field of morphology and new insights in human genetics, have led to the early diagnosis of hereditary nephropathy in growing number of cases. Light microscopic findings are not specific. Using electron microscopy, however, cases with primary lesions of the peripheral glomerular basement membrane (Alport's syndrome, benign familial hematuria, nail-patella syndrome) exhibit pathognomonic morphologic changes even in early stages of the disease. Electron microscopy is thus the only effective diagnostic method in suspicious cases.
形态学领域的进展以及人类遗传学方面的新见解，已使越来越多的遗传性肾病病例得以早期诊断。光镜检查结果不具有特异性。然而，使用电子显微镜，外周肾小球基底膜原发性病变的病例（阿尔波特综合征、良性家族性血尿、指甲-髌骨综合征）即使在疾病早期也呈现出特征性的形态学变化。因此，电子显微镜是可疑病例中唯一有效的诊断方法。
